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Meckel syndrome 13 (sequence analysis of TMEM107 gene)
TMEM107
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Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

Specialties

- Rare diseases, Nephrology, Neurology / Neuropediatrics, Dysmorphology


CGC Reference

- 4749




Associated Tests


Joubert syndrome (WES based NGS panel for 35 genes, including CNV analysis)
Meckel syndrome (NGS panel of 13 genes)